Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DSE Q9UL01 dermatan sulfate epimerase 0.63 0.700 0.462
SP7 Q8TDD2 Sp7 transcription factor Nucleic acid binding 0.58 0.711 0.462
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
OSGEP Q9NPF4 O-sialoglycoprotein endopeptidase Enzyme 7.1E-08 0.626 0.615
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 0.692
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
ZBTB20 Q9HC78 zinc finger and BTB domain containing 20 0.97 0.566 0.731
SLC25A24 Q6NUK1 solute carrier family 25 member 24 Transporter 3.4E-12 0.575 0.731
FAM20C Q8IXL6 FAM20C golgi associated secretory pathway kinase 0.31 0.578 0.731
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808